Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal nasolacrimal system morphology (HP:0000614)

Parent Node:
Abnormal lacrimal punctum morphology (HP:0011479)

..Starting node
..Punctal stenosis (HP:0025572)

Term ID:

25572

Name:

Punctal stenosis

Synonym:

Lacrimal punctum stenosis; Stenosis of the lacrimal punctum

Definition:

Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded.

Comments:

Reference:

HP:0025572

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent lacrimal punctum (HP:0001092)

Ectopic lacrimal punctum (HP:0010748)

Hypoplasia of the lacrimal punctum (HP:0007892)

Lacrimal punctal atresia (HP:0007820)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025572	HP:0025572	Punctal stenosis	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92

Genes (1) :FOXL2

Diseases (1) :ORPHA:572333

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.